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Article

Heterozygous TSHR Variants in Pediatric Idiopathic Subclinical Hypothyroidism: Association with a Variable and Compensated Thyroid Phenotype

Journal of clinical research in pediatric endocrinology - 8 Sept 2026

Yaşar Ayşe, Yarar Murat Hakkı, Kırmızıbekmez Heves, Dursun Fatma

Abstract excerpt

Objective: Subclinical hypothyroidism (SH) in childhood is frequently idiopathic and usually follows a benign course. Heterozygous loss-off-unction variants in the thyrotropin receptor (TSHR) gene have emerged as a genetic cause of isolated hyperthyrotropinemia but data regarding long-term outcomes and management are limited. Methods: We retrospectively evaluated children (aged 1-18 years) diagnosed with...

Read the complete abstract on PubMed

Topics

Humans
Receptors, Thyrotropin
Female
Hypothyroidism
Child
Male
Child, Preschool

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Phenotype

Retrospective Studies

Adolescent

Infant

Heterozygote

Thyroid Gland

Source

Open in PubMed Open full text

Identifiers

PMID: 42246651
DOI: 10.4274/jcrpe.galenos.2026.2026-2-20
PMCID: PMC13554924

Genes

TSHR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 26 Oct 2026.

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